Genetic research increases understanding of autoimmune disease risk

May 22, 2007

Geneticists have identified a link between the number of copies of a specific gene an individual has and their susceptibility to autoimmune diseases like lupus. Research using DNA has revealed that people who have a below average number of copies of a gene, known as FCGR3B, have an increased risk of developing diseases caused when the body's immune system attacks its own tissue.

The research by Professor Tim Aitman of the Medical Research Council Clinical Sciences Centre at Imperial College London, and colleagues, is published in Nature Genetics.

Professor Aitman explains the team's research discovery: "The variations in DNA that people carry contribute to observable characteristics like height, weight and skin colour. Genetic variations have similar effects on individual susceptibility to disease. In this research our team focused on structural differences in the genome and set out to determine whether the number of copies of a particular gene a person has influences their chances of developing an autoimmune disease. We discovered that not only does the number of copies of a gene you have influence your chances of disease but that this kind of structural variation in the genome could be driving evolution of human weaknesses for infection and inflammation."

The team studied DNA from two groups of people living in the UK and France. They discovered that people who have a comparatively low number of FCGR3B genes are more likely to suffer from autoimmune diseases like lupus (systemic lupus erythematosus) that affect the whole body. The same link was not found to autoimmune conditions affecting just one organ such as Addisons' disease, which damages the adrenal gland, or Graves' disease, which attacks the thyroid.

Human genome research increasingly provides evidence that individuals vary in the number of copies of genes present in each of their genomes. Professor Aitman concludes: "Our discovery highlights the importance of gene copy number variation, that is differences in the number of copies of a specific gene a person carries, in genetic predisposition to common human diseases. The next step is to find out whether genes that are closely related to this susceptibility gene, FCGR3B, also vary in copy number and predispose to similar diseases."

The research team hopes to achieve these aims by studying the genomes of individual people to find out if there is any correlation between gene copy number and patterns of disease presentation or responses to specific treatments.

Source: Imperial College London

Explore further: RNA-binding protein influences key mediator of cellular inflammation and stress responses

Related Stories

Fighting mosquito resistance to insecticides

July 23, 2015

Controlling mosquitoes that carry human diseases is a global health challenge as their ability to resist insecticides now threatens efforts to prevent epidemics. Scientists from the CNRS, IRD, Université Claude Bernard Lyon ...

The artificial enzyme that "acts" natural

July 8, 2015

Certain genetic diseases arise from a deficit of specific genes. An enzyme that amplifies gene transcription could be a viable therapy in these cases, as long as genes are not stimulated to work on the wrong part of the body. ...

Recommended for you

Machine Translates Thoughts into Speech in Real Time

December 21, 2009

(PhysOrg.com) -- By implanting an electrode into the brain of a person with locked-in syndrome, scientists have demonstrated how to wirelessly transmit neural signals to a speech synthesizer. The "thought-to-speech" process ...

Quantum Theory May Explain Wishful Thinking

April 14, 2009

(PhysOrg.com) -- Humans don’t always make the most rational decisions. As studies have shown, even when logic and reasoning point in one direction, sometimes we chose the opposite route, motivated by personal bias or simply ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.